Canonical Allele Identifier: CA2507809559

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19703873G>A , CM000686.2:g.19703873G>A	GRCh38
NC_000024.9:g.21865759G>A , CM000686.1:g.21865759G>A	GRCh37
NC_000024.8:g.20325147G>A	NCBI36
NG_032920.1:g.46067C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*2122C>T MANE Select	ENSP00000322408.4:n.*2122C>T
ENST00000469599.6:n.5493C>T
NM_001146706.2:c.*2122C>T	NP_001140178.1:n.*2122C>T
NM_004653.5:c.*2122C>T MANE Select	NP_004644.2:n.*2122C>T
NM_001146705.2:c.*2122C>T	NP_001140177.1:n.*2122C>T